Variant report

Variant	rs57847751
Chromosome Location	chr6:45643435-45643436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45643267..45645325-chr6:45679837..45682530,2	MCF-7	breast:
2	chr6:45387873..45391350-chr6:45642901..45646664,5	MCF-7	breast:
3	chr6:45643355..45645914-chr6:45665891..45668541,2	MCF-7	breast:
4	chr6:45643425..45645102-chr6:45658763..45660463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1889595	0.95[EUR][1000 genomes]
rs56125920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56383386	0.93[EUR][1000 genomes]
rs58033063	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515711	0.89[ASN][1000 genomes]
rs58899441	0.83[ASN][1000 genomes]
rs59086975	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60021834	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60499694	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60653179	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61046945	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61433014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735894	0.93[EUR][1000 genomes]
rs61735906	0.93[EUR][1000 genomes]
rs6906753	0.90[EUR][1000 genomes]
rs6932213	0.95[EUR][1000 genomes]
rs73444596	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73446524	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735415	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735416	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73738524	0.83[ASN][1000 genomes]
rs7755911	0.95[EUR][1000 genomes]
rs976319	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
2	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
3	chr6:45635000-45644800	Weak transcription	NHLF	lung
4	chr6:45635600-45644200	Weak transcription	HSMM	muscle
5	chr6:45635600-45644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:45642200-45646400	Enhancers	Fetal Thymus	thymus
7	chr6:45643000-45643600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:45643000-45643800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr6:45643000-45644200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:45643000-45644800	Enhancers	Primary T cells from cord blood	blood
11	chr6:45643000-45644800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:45643000-45645000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:45643000-45645000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:45643000-45645000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:45643000-45646000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:45643200-45643600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:45643200-45643600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:45643200-45643800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr6:45643200-45643800	Enhancers	Esophagus	oesophagus
20	chr6:45643200-45644200	Enhancers	Pancreas	Pancrea
21	chr6:45643200-45644800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:45643200-45644800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:45643200-45644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:45643200-45644800	Enhancers	Dnd41	blood
25	chr6:45643200-45645000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:45643200-45645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:45643200-45645200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:45643200-45646000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:45643400-45643600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:45643400-45643600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr6:45643400-45643600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:45643400-45643600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:45643400-45643600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:45643400-45643600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:45643400-45643600	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:45643400-45643600	Enhancers	NHEK	skin
37	chr6:45643400-45643800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:45643400-45643800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr6:45643400-45644000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:45643400-45644800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:45643400-45644800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:45643400-45645200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:45643400-45647600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:45643400-45647800	Enhancers	Primary B cells from peripheral blood	blood

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